Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.730 GeneticVariation BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803 2020
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
A 0.730 GeneticVariation CLINVAR Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 20151976 2010
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.730 GeneticVariation BEFREE To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). 20113333 2010
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.730 GeneticVariation BEFREE Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. 19713221 2010
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
A 0.730 GeneticVariation CLINVAR New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 18528423 2008
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803 2020
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). 28990497 2018
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required. 26919114 2016
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT. 20062088 2010
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). 20113333 2010
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. 19194467 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases. 19616600 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia. 19261614 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele. 18669880 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L. 18723266 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated. 17408465 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. 17709604 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.100 GeneticVariation BEFREE DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. 16834459 2006
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.050 GeneticVariation BEFREE Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. 25176567 2014
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.050 GeneticVariation BEFREE In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis. 23872309 2013
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.050 GeneticVariation BEFREE To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). 20113333 2010
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.050 GeneticVariation BEFREE Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). 19274616 2010
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
0.050 GeneticVariation BEFREE A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing. 19194467 2009